SUFU - SUFU negative regulator of hedgehog signaling Gene

Also Known as SUFUH; JBTS32; SUFUXL; PRO1280

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51684

About SUFU

Cytogenetic location: 10q24.32 Genomic coordinates (GRCh38): 10:102,502,819-102,633,535 (from NCBI)

This gene has 4 transcripts (splice variants), 206 orthologues and is associated with 109 phenotypes. Ubiquitous expression in skin (RPKM 4.8), ovary (RPKM 4.2) and 25 other tissues.

Summary

The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the Hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

SUFU Products (2)

mRNA	Protein	Name
NM_001178133.2	NP_001171604.1	suppressor of fused homolog isoform 2
NM_016169.4	NP_057253.2	suppressor of fused homolog isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10564661	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	20643644	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of smoothened signaling pathway	IMP IMP: Inferred from mutant phenotype	27234298	GOA
acts upstream of or within negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	10564661	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	24311597	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of GLI-SUFU complex	IPI IPI: Inferred from physical interaction	24311597	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	10564661	GOA
located in cytoplasm	IMP IMP: Inferred from mutant phenotype	28965847	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10806483	GOA
located in nucleus	IMP IMP: Inferred from mutant phenotype	28965847	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SUFU Protein Structure

SUFU

SUFU_C

0
100
200
300
400
484 a.a.

Protein Preferred Names	Protein Names
suppressor of fused homolog	negative regulator of hedgehog signaling

Related Diseases

Diseases	Alias
Joubert Syndrome 32	JBTS32
Basal Cell Nevus Syndrome	Nevoid Basal Cell Carcinoma Syndrome Gorlin Syndrome Nbccs BCNS Gorlin-Goltz Syndrome Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies Cerebral Gigantism Jaw Cysts Cramer Niederdellmann Syndrome Gorlin Syndrome Or Gorlin-Goltz Syndrome Naevoid Basal Cell Carcinoma Syndrome
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Medulloblastoma Predisposition Syndrome Medulloblastoma, Somatic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Neuroectodermal Tumors, Primitive Medulloblastomas Desmoplastic Medulloblastoma Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
Meningioma, Familial	Meningioma Familial Meningioma Meningioma, Familial, Susceptibility To Meningeal Neoplasm Meningeal Neoplasms Meningiomas Meningioma, Nf2-Related, Somatic Meningioma, Sis-Related Meningothelial Cell Tumor Neoplasm Of The Meninges Primary Meningeal Tumor Familial Multiple Meningioma MNGMA Meningioma, Benign, No Icd-O Subtype Intracranial Meningioma Meningothelial Cell Neoplasm Supratentorial Meningioma Primary Neoplasm Of Spinal Meninges Benign Intracranial Meningioma Benign Meningioma Meningeal Tumours Meningeal Sarcoma Of Unspecified Site Meningothelial Sarcoma Of Unspecified Site
Desmoplastic Nodular Medulloblastoma	Medulloblastoma With Extensive Nodularity Nodular Medulloblastoma Desmoplastic/Nodular Medulloblastoma Mben Medulloblastoma, With Extensive Nodularity
Oculomotor Apraxia
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Microform Holoprosencephaly	Hpe, Minor Form Hpe-L Holoprosencephaly, Minor Form Holoprosencephaly-Like Microform Hpe
Basal Cell Carcinoma, Infundibulocystic	Basal Cell Carcinoma With Follicular Differentiation Infundibulocystic Basal Cell Carcinoma Skin Infundibulocystic Basal Cell Carcinoma
Apraxia	Apraxias Dyspraxia
Ovary Leiomyosarcoma	Leiomyosarcoma Of Ovary
Basal Cell Carcinoma	Basal Cell Cancer Basal Cell Neoplasm Basal Cell Carcinoma Of Skin Malignant Basal Cell Tumor Basal Cell Tumor Epithelioma Basal Cell Malignant Basal Cell Neoplasm Rodent Ulcer Carcinoma Basal Cell Neoplasms, Basal Cell Basal Cell Carcinomas Experimental Organism Basal Cell Carcinoma Nodulo-Ulcerative Basal Cell Carcinoma Basalioma Basal Cell Epithelioma Of Skin Bcc - [Basal Cell Carcinoma] Of Skin Rodent Ulcer Of Skin Rodent Ulcer Of Unspecified Site Basal Cell Epithelioma Of Unspecified Site
Large Cell Medulloblastoma
Primary Ovarian Insufficiency 6
Adult Medulloblastoma	Adult Brain Medulloblastoma Medulloblastoma, Adult
Focal Dermal Hypoplasia	Goltz Syndrome Goltz-Gorlin Syndrome FDH FODH Dhof Goltz Gorlin Syndrome Hypoplasia, Dermal, Focal
Cerebellar Medulloblastoma
Bartholin'S Gland Adenoid Cystic Carcinoma	Bartholin Gland Adenoid Cystic Carcinoma
Infratentorial Cancer	Infratentorial Neoplasms Brain Neoplasm, Infratentorial Malignant Infratentorial Tumors
Clear Cell Meningioma
Skin Carcinoma	Skin Cancer Carcinoma Of Skin Ca - Skin Cancer Cancer Of Skin Malignant Neoplasm Of Skin Melanoma And Non-Melanoma Skin Cancer Skin Cancers Cancer, Skin
Medullomyoblastoma
Childhood Medulloblastoma	Medulloblastoma, Childhood Pediatric Medulloblastoma Medulloblastoma Childhood
Joubert Syndrome 8	JBTS8 Joubert Syndrome, Type 8
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Rhabdoid Meningioma	Papillary Meningioma Meningioma, Rhabdoid
Penis Carcinoma In Situ	Carcinoma In Situ Of Penis Bowen'S Disease Of Penis Grade Iii Squamous Intraepithelial Lesion Of Penis Penile Intraepithelial Neoplasia Grade Iii Queyrat'S Erythroplasia Erythroplasia Of Queyrat Pin - [Penile Intraepithelial Neoplasia]
Cerebral Falx Meningioma	Falcine Meningioma Falx Cerebri Meningioma
Melanotic Medulloblastoma	Medulloblastoma, Melanotic
Parasagittal Meningioma
Meningothelial Meningioma	Meningotheliomatous Meningioma
Cerebral Convexity Meningioma	Cerebral Hemispheric Convexity Meningioma
Secretory Meningioma	Meningioma
Cerebellum Cancer	Cerebellar Neoplasms Cerebellar Cancer Malignant Tumor Of Cerebellum Malignant Neoplasm Of Cerebellum
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Pleomorphic Rhabdomyosarcoma	Adult Pleomorphic Rhabdomyosarcoma Anaplastic Rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma, Adult Type
Anterior Cranial Fossa Meningioma	Meningioma Of The Anterior Fossa
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Severe Congenital Encephalopathy Due To Mecp2 Mutation Severe Neonatal-Onset Encephalopathy With Microcephaly Encephalopathy, Neonatal Severe Neonatal Severe Encephalopathy Due To Mecp2 Mutations Mecp2-Related Severe Neonatal Encephalopathy Methyl-Cytosine Phosphate Guanine Binding Protein 2 Related Severe Neonatal Encephalopathy Severe Neonatal Encephalopathy Due To Mecp2 Mutations ENS-MECP2 Encephalopathy, Neonatal, Severe
Rhabdomyosarcoma
Greig Cephalopolysyndactyly Syndrome	GCPS Polysyndactyly With Peculiar Skull Shape Polysyndactyly With Peculiars Skull Shape Greig Syndrome Cephalopolysyndactyly Syndrome Greig Cephalo-Poly-Syndactyly Syndrome Cephalopolysyndactyly, Greig Syndrome Aarskog Syndrome
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Neurilemmomatosis	Schwannomatosis Neurofibromatosis Type 3 Nf3 Neurilemmomatosis Congenital Cutaneous Neurinomatosis Congenital Cutaneous Neurilemmomatosis Multiple Neurilemmomas Multiple Schwannomas Neurilemmomatosis, Congenital Cutaneous Schwannomatosis 1 Neurofibromatosis 3 Mixed Central And Peripheral Neurofibromatosis Nf3 - [Neurofibromatosis Type 3]
Acrocallosal Syndrome	ACLS Schinzel Acrocallosal Syndrome Joubert Syndrome 12 Schinzel Syndrome 1 Acrocallosal Syndrome, Schinzel Type Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum Acs Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum JBTS12 Acrocallosal Syndrome
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Ellis-Van Creveld Syndrome	Chondroectodermal Dysplasia Mesoectodermal Dysplasia EVC Ellis Van Creveld Syndrome Mesodermic Dysplasia Ellis-Van Creveld Dysplasia
Li-Fraumeni Syndrome	Sarcoma Family Syndrome Of Li And Fraumeni Sbla Syndrome LFS Li-Fraumeni Familiar Cancer Susceptibility Syndrome Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome Lfs1 Li Fraumeni Syndrome Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome Lfl Sbla Syndrome Li-Fraumeni-Like Syndrome Li-Fraumeni Syndrome 1
Atypical Teratoid Rhabdoid Tumor	Rhabdoid Tumor Predisposition Syndrome Rtps Atypical Teratoid/Rhabdoid Tumor Rhabdoid Predisposition Syndrome Familial Posterior Fossa Brain Tumor Of Infancy Familial Rhabdoid Tumor At/Rt Atypical Teratoid Rhabdoid Tumour Atypical Teratoid/Rhabdoid Tumour Rhabdoid Tumor Of The Cns Rhabdoid Tumour Of The Cns Familial Posterior Fossa Brain Tumor Syndrome Hereditary Swi/Snf Deficiency Syndrome Atrt
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-105634A	Nomegestrol acetate	Agonist	99.73%	Yes

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-162273	Antibacterial agent 189	Inhibitor	/	Unkown
HY-RS14007	SUFU Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18155	Sufu Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24629	Sufu Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SUFU	VGNC	VGNC:78137
Bos taurus	SUFU	VGNC	VGNC:35461
Felis catus	SUFU	VGNC	VGNC:65829
Mus musculus	SUFU	MGD	MGI:1345643
Canis familiaris	SUFU	VGNC	VGNC:46971
Rattus norvegicus	SUFU	RGD	RGD:1559462
Others	SUFU	NCBI